Homozygous erythrocyte glutathione-peroxidase deficiency: clinical and biochemical studies.

T HE ENZYME glutathione peroxidase appears to play a major role in the red cell in the detoxification of potential oxidizing agents. A genetically determined partial, or presumably heterozygous, deficiency of this enzyme has been associated with a transient hemolytic anemia and hyperbilirubinemia in newborns.l* Unless subjected to oxidative stress, red cells from older children and adults with a partial deficiency of glutathione peroxidase do not appear to be especially susceptible to hemolysis. A homozygous defect in erythrocyte glutathione peroxidase, which has not been previously described, could be predicted to result in a clinical syndrome similar to that